Canonical Allele Identifier: CA174910
Gene: DGAT2L6 HGNC NCBI

Linked Data

ClinVar Variation Id: 161853
ClinVar RCV Id: RCV000149389
dbSNP Id: rs193921067
COSMIC: COSM5521425
MyVariant Identifiers: chrX:g.69424276C>A (hg19) chrX:g.70204426C>A (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70204426C>A , CM000685.2:g.70204426C>A GRCh38
NC_000023.10:g.69424276C>A , CM000685.1:g.69424276C>A GRCh37
NC_000023.9:g.69341001C>A NCBI36
NG_046940.1:g.31944C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333026.4:c.769C>A MANE Select ENSP00000328036.3:p.Leu257Met
ENST00000333026.3:c.769C>A ENSP00000328036.3:p.Leu257Met
NM_198512.2:c.769C>A NP_940914.1:p.Leu257Met
XM_011530947.1:c.307C>A XP_011529249.1:p.Leu103Met
NM_198512.3:c.769C>A MANE Select NP_940914.1:p.Leu257Met
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